Mutagenetix > Incidental Mutation

Incidental Mutation 'R0401:Pogz'

38187

Institutional Source

Beutler Lab

Gene Symbol

Pogz

Ensembl Gene

ENSMUSG00000038902

Gene Name

pogo transposable element with ZNF domain

Synonyms

9530006B08Rik

MMRRC Submission

038606-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.739) question?

Stock #

R0401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94837567-94882326 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94877025 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 722 (P722S)

Ref Sequence

ENSEMBL: ENSMUSP00000102891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042402] [ENSMUST00000107266] [ENSMUST00000107269] [ENSMUST00000107270]

AlphaFold

Q8BZH4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042402
AA Change: P713S

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902
AA Change: P713S

Domain	Start	End	E-Value	Type
low complexity region	9	16	N/A	INTRINSIC
low complexity region	41	54	N/A	INTRINSIC
low complexity region	239	266	N/A	INTRINSIC
low complexity region	328	335	N/A	INTRINSIC
PDB:2E72\|A	362	393	5e-16	PDB
low complexity region	401	436	N/A	INTRINSIC
ZnF_C2H2	482	504	1.64e-1	SMART
ZnF_C2H2	518	541	5.34e0	SMART
ZnF_C2H2	548	571	4.79e-3	SMART
ZnF_C2H2	578	601	9.3e-1	SMART
ZnF_C2H2	607	629	3.34e-2	SMART
ZnF_C2H2	635	657	1.13e1	SMART
ZnF_C2H2	758	781	9.46e0	SMART
ZnF_C2H2	802	827	5.26e1	SMART
low complexity region	896	915	N/A	INTRINSIC
low complexity region	946	955	N/A	INTRINSIC
low complexity region	984	996	N/A	INTRINSIC
CENPB	1008	1072	3.84e-15	SMART
Pfam:DDE_1	1104	1289	3.3e-22	PFAM
low complexity region	1355	1365	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107266
AA Change: P669S

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902
AA Change: P669S

Domain	Start	End	E-Value	Type
low complexity region	9	16	N/A	INTRINSIC
low complexity region	186	213	N/A	INTRINSIC
low complexity region	284	291	N/A	INTRINSIC
PDB:2E72\|A	318	349	6e-16	PDB
low complexity region	357	392	N/A	INTRINSIC
ZnF_C2H2	438	460	1.64e-1	SMART
ZnF_C2H2	474	497	5.34e0	SMART
ZnF_C2H2	504	527	4.79e-3	SMART
ZnF_C2H2	534	557	9.3e-1	SMART
ZnF_C2H2	563	585	3.34e-2	SMART
ZnF_C2H2	591	613	1.13e1	SMART
ZnF_C2H2	714	737	9.46e0	SMART
ZnF_C2H2	758	783	5.26e1	SMART
low complexity region	852	871	N/A	INTRINSIC
low complexity region	902	911	N/A	INTRINSIC
low complexity region	940	952	N/A	INTRINSIC
CENPB	964	1028	3.84e-15	SMART
Pfam:DDE_1	1060	1245	1.1e-22	PFAM
low complexity region	1311	1321	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107269
AA Change: P627S

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902
AA Change: P627S

Domain	Start	End	E-Value	Type
low complexity region	9	16	N/A	INTRINSIC
low complexity region	41	54	N/A	INTRINSIC
low complexity region	144	171	N/A	INTRINSIC
low complexity region	242	249	N/A	INTRINSIC
PDB:2E72\|A	276	307	5e-16	PDB
low complexity region	315	350	N/A	INTRINSIC
ZnF_C2H2	396	418	1.64e-1	SMART
ZnF_C2H2	432	455	5.34e0	SMART
ZnF_C2H2	462	485	4.79e-3	SMART
ZnF_C2H2	492	515	9.3e-1	SMART
ZnF_C2H2	521	543	3.34e-2	SMART
ZnF_C2H2	549	571	1.13e1	SMART
ZnF_C2H2	672	695	9.46e0	SMART
ZnF_C2H2	716	741	5.26e1	SMART
low complexity region	810	829	N/A	INTRINSIC
low complexity region	860	869	N/A	INTRINSIC
low complexity region	898	910	N/A	INTRINSIC
CENPB	922	986	3.84e-15	SMART
Pfam:DDE_1	1018	1203	1.1e-22	PFAM
low complexity region	1269	1279	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107270
AA Change: P722S

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902
AA Change: P722S

Domain	Start	End	E-Value	Type
low complexity region	9	16	N/A	INTRINSIC
low complexity region	41	54	N/A	INTRINSIC
low complexity region	239	266	N/A	INTRINSIC
low complexity region	337	344	N/A	INTRINSIC
PDB:2E72\|A	371	402	5e-16	PDB
low complexity region	410	445	N/A	INTRINSIC
ZnF_C2H2	491	513	1.64e-1	SMART
ZnF_C2H2	527	550	5.34e0	SMART
ZnF_C2H2	557	580	4.79e-3	SMART
ZnF_C2H2	587	610	9.3e-1	SMART
ZnF_C2H2	616	638	3.34e-2	SMART
ZnF_C2H2	644	666	1.13e1	SMART
ZnF_C2H2	767	790	9.46e0	SMART
ZnF_C2H2	811	836	5.26e1	SMART
low complexity region	905	924	N/A	INTRINSIC
low complexity region	955	964	N/A	INTRINSIC
low complexity region	993	1005	N/A	INTRINSIC
CENPB	1017	1081	3.84e-15	SMART
Pfam:DDE_1	1150	1298	1.5e-18	PFAM
low complexity region	1364	1374	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125638

Predicted Effect

probably benign
Transcript: ENSMUST00000140397

SMART Domains

Protein: ENSMUSP00000122492
Gene: ENSMUSG00000038902

Domain	Start	End	E-Value	Type
low complexity region	31	38	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142253

Meta Mutation Damage Score

0.0689

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (90/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 138,070,306	H1752L	possibly damaging	Het
8030462N17Rik	C	A	18: 77,673,962	S218I	probably damaging	Het
A530099J19Rik	A	T	13: 19,729,494		noncoding transcript	Het
Abcc5	T	C	16: 20,376,558	K730E	probably benign	Het
Ahnak	A	G	19: 9,015,116	D4588G	probably benign	Het
AI467606	G	A	7: 127,092,436	R61H	probably damaging	Het
Apoa4	T	A	9: 46,243,058	V319E	probably damaging	Het
Atad5	T	A	11: 80,120,699	D1297E	probably benign	Het
BC005624	G	A	2: 30,980,009	T62I	probably benign	Het
Bcl6	T	C	16: 23,972,594	K337E	probably damaging	Het
Cad	T	A	5: 31,073,986		probably benign	Het
Ccdc73	T	C	2: 104,991,289	S528P	probably benign	Het
Ccng2	T	G	5: 93,273,413	C261G	possibly damaging	Het
Cdh11	A	T	8: 102,674,006	I110N	probably damaging	Het
Cgnl1	A	G	9: 71,705,239	V767A	probably damaging	Het
Cit	A	G	5: 115,985,479	T1460A	probably benign	Het
Clec4b2	C	T	6: 123,181,300	Q42*	probably null	Het
Clip1	A	G	5: 123,653,789	V106A	probably damaging	Het
Crb1	T	C	1: 139,198,791		probably benign	Het
Cts6	T	C	13: 61,198,339		probably benign	Het
Cul9	T	C	17: 46,541,704	E244G	probably damaging	Het
Ddx55	A	T	5: 124,567,951	I480F	probably damaging	Het
Dixdc1	A	G	9: 50,693,674	S17P	possibly damaging	Het
Drosha	T	A	15: 12,926,031	Y1235*	probably null	Het
Dsg2	G	T	18: 20,592,508		probably benign	Het
E2f5	T	C	3: 14,579,025		probably null	Het
Epc2	A	G	2: 49,528,974	T265A	probably damaging	Het
Etaa1	T	G	11: 17,947,514	D201A	probably damaging	Het
Fancd2	T	C	6: 113,548,343	I260T	possibly damaging	Het
Fhdc1	G	A	3: 84,444,624	A1098V	probably benign	Het
Gm17689	G	T	9: 36,582,628	A3E	unknown	Het
Gm7030	C	T	17: 36,128,705	V128M	probably damaging	Het
Gpd2	G	A	2: 57,340,093	V286I	possibly damaging	Het
Herc2	A	C	7: 56,157,732	E2523A	probably damaging	Het
Jmjd1c	G	A	10: 67,220,382	R527H	probably damaging	Het
Kif12	G	A	4: 63,169,525		probably benign	Het
Lrp2	A	T	2: 69,479,148	N2802K	probably damaging	Het
Mab21l2	C	G	3: 86,546,989	G235R	probably benign	Het
Mapk8	T	C	14: 33,382,208	E417G	probably benign	Het
Mapk8ip3	G	A	17: 24,909,171		probably benign	Het
Mettl1	A	G	10: 127,045,077	T203A	probably benign	Het
Mettl9	T	C	7: 121,076,313	V312A	probably damaging	Het
Mex3d	A	G	10: 80,386,894	V176A	probably benign	Het
Mmp3	T	C	9: 7,449,790	S225P	probably damaging	Het
Mrvi1	G	A	7: 110,876,897	P757S	probably benign	Het
Neb	G	A	2: 52,188,677		probably benign	Het
Ninj2	C	T	6: 120,198,051	A51V	possibly damaging	Het
Nle1	A	G	11: 82,905,379		probably benign	Het
Nol9	T	C	4: 152,052,605	Y532H	probably benign	Het
Nr2c1	T	A	10: 94,171,158	V286E	probably benign	Het
Olfr1183	T	G	2: 88,461,925	L195R	probably damaging	Het
Olfr1272	A	T	2: 90,282,404	M57K	probably damaging	Het
Olfr308	T	C	7: 86,321,292	Y220C	probably benign	Het
Olfr481	T	A	7: 108,080,872	I26N	possibly damaging	Het
Olfr670	T	A	7: 104,959,943	H263L	probably damaging	Het
Olfr816	A	G	10: 129,911,916	Y121H	probably benign	Het
Olfr827	A	G	10: 130,210,620	L170P	probably damaging	Het
Ovch2	A	T	7: 107,801,136	V15D	probably damaging	Het
Pclo	T	G	5: 14,681,734	S3417A	unknown	Het
Pet2	C	A	X: 89,405,209	R438L	probably benign	Het
Pex1	T	A	5: 3,633,759	M1085K	probably damaging	Het
Plscr2	T	C	9: 92,282,135	S6P	probably benign	Het
Pom121l2	A	T	13: 21,982,225	D222V	probably benign	Het
Prpf40a	T	C	2: 53,159,313	Y179C	probably damaging	Het
R3hdm2	A	G	10: 127,458,173	I179V	possibly damaging	Het
Ranbp9	A	C	13: 43,422,658	V355G	probably damaging	Het
Rims2	T	C	15: 39,509,632		probably benign	Het
Ryr2	A	T	13: 11,705,684	S2693T	probably benign	Het
Sbno1	G	A	5: 124,410,285	T111I	probably damaging	Het
Sdk1	A	C	5: 142,046,161	N997T	possibly damaging	Het
Setx	G	T	2: 29,166,289	E39*	probably null	Het
Skint7	T	A	4: 111,980,362	N112K	probably damaging	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Slc4a10	A	T	2: 62,190,848	D80V	probably benign	Het
Susd2	C	A	10: 75,638,603		probably benign	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tcf3	G	T	10: 80,421,158	S77R	probably damaging	Het
Tdpoz3	T	C	3: 93,826,365	Y116H	probably benign	Het
Tex26	C	A	5: 149,460,858	D164E	probably benign	Het
Thoc5	G	A	11: 4,902,213		probably benign	Het
Tiparp	A	G	3: 65,531,436	R58G	probably benign	Het
Trim66	A	T	7: 109,475,264	C597S	probably damaging	Het
Ugt2a3	T	A	5: 87,336,490	Q225L	probably benign	Het
Vmn1r25	T	A	6: 57,978,711	I198L	probably benign	Het
Vmn2r106	A	T	17: 20,279,019	V210D	possibly damaging	Het
Vmn2r124	T	C	17: 18,064,145	F483L	probably damaging	Het
Vmn2r78	A	G	7: 86,921,311	K346E	probably benign	Het
Zfhx4	T	A	3: 5,401,161	S2126R	possibly damaging	Het
Zfp608	C	T	18: 54,898,994	G625R	probably benign	Het
Zkscan5	A	G	5: 145,212,575	D234G	probably damaging	Het
Zscan10	T	A	17: 23,605,915	V115E	probably damaging	Het

Other mutations in Pogz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02127:Pogz	APN	3	94874703	unclassified	probably benign
IGL02225:Pogz	APN	3	94879016	missense	probably damaging	0.99
IGL02377:Pogz	APN	3	94879010	missense	probably damaging	1.00
IGL02468:Pogz	APN	3	94879083	missense	probably damaging	0.97
IGL02672:Pogz	APN	3	94856099	missense	probably benign	0.08
IGL03290:Pogz	APN	3	94875091	unclassified	probably benign
FR4976:Pogz	UTSW	3	94874695	unclassified	probably benign
PIT4382001:Pogz	UTSW	3	94879796	missense	probably damaging	1.00
PIT4434001:Pogz	UTSW	3	94872370	missense	probably damaging	1.00
R0326:Pogz	UTSW	3	94870113	missense	probably damaging	1.00
R0479:Pogz	UTSW	3	94876636	missense	possibly damaging	0.92
R0586:Pogz	UTSW	3	94879353	missense	probably damaging	1.00
R1349:Pogz	UTSW	3	94860888	missense	probably damaging	1.00
R1372:Pogz	UTSW	3	94860888	missense	probably damaging	1.00
R1670:Pogz	UTSW	3	94878849	missense	probably benign	0.21
R1780:Pogz	UTSW	3	94870126	missense	possibly damaging	0.54
R1854:Pogz	UTSW	3	94878849	missense	probably benign	0.21
R1855:Pogz	UTSW	3	94878849	missense	probably benign	0.21
R1964:Pogz	UTSW	3	94878193	missense	probably benign	0.36
R1995:Pogz	UTSW	3	94877944	missense	probably damaging	1.00
R2109:Pogz	UTSW	3	94878965	missense	probably benign
R2139:Pogz	UTSW	3	94871007	missense	possibly damaging	0.95
R4457:Pogz	UTSW	3	94856063	missense	probably benign	0.14
R4598:Pogz	UTSW	3	94880180	missense	possibly damaging	0.52
R5598:Pogz	UTSW	3	94864509	missense	probably damaging	1.00
R5999:Pogz	UTSW	3	94856117	missense	possibly damaging	0.77
R6104:Pogz	UTSW	3	94880031	missense	probably benign	0.09
R7017:Pogz	UTSW	3	94854024	missense	probably damaging	0.99
R7632:Pogz	UTSW	3	94856206	splice site	probably null
R7788:Pogz	UTSW	3	94875233	missense	probably damaging	0.99
R7810:Pogz	UTSW	3	94870107	missense	probably benign	0.00
R8396:Pogz	UTSW	3	94878750	missense	probably benign	0.00
R8681:Pogz	UTSW	3	94860923	missense	probably damaging	1.00
R8981:Pogz	UTSW	3	94878915	missense	probably damaging	0.96
R8982:Pogz	UTSW	3	94879568	missense	probably damaging	1.00
R9024:Pogz	UTSW	3	94878232	missense	probably damaging	1.00
R9056:Pogz	UTSW	3	94880219	missense	probably benign	0.02
R9316:Pogz	UTSW	3	94877348	missense	probably damaging	1.00
RF014:Pogz	UTSW	3	94878247	missense	possibly damaging	0.77
Z1088:Pogz	UTSW	3	94879076	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGTCATCCTGTGTGAGTGTCACC -3'
(R):5'- TGCTGTATCGGCAGAGAGAACAATG -3'

Sequencing Primer
(F):5'- TGTGAGTGTCACCTAGCTAAC -3'
(R):5'- TCTGGAATCTCAAAGCTGCACTC -3'

Posted On

2013-05-23